Crocco Paolina, Barale Roberto, Rose Giuseppina, Rizzato Cosmeri, Santoro Aurelia, De Rango Francesco, Carrai Maura, Fogar Paola, Monti Daniela, Biondi Fiammetta, Bucci Laura, Ostan Rita, Tallaro Federica, Montesanto Alberto, Zambon Carlo-Federico, Franceschi Claudio, Canzian Federico, Passarino Giuseppe, Campa Daniele
Department of Biology, Ecology and Earth Science, University of Calabria, 87036, Rende, Italy.
Biogerontology. 2015 Jun;16(3):353-64. doi: 10.1007/s10522-015-9551-6. Epub 2015 Jan 29.
Leukocyte telomere length (LTL) has been observed to be hereditable and correlated with longevity. However, contrasting results have been reported in different populations on the value of LTL heritability and on how biology of telomeres influences longevity. We investigated whether the variability of genes correlated to telomere maintenance is associated with telomere length and affects longevity in a population from Southern Italy (20-106 years). For this purpose we analyzed thirty-one polymorphisms in eight telomerase-associated genes of which twelve in the genes coding for the core enzyme (TERT and TERC) and the remaining in genes coding for components of the telomerase complex (TERF1, TERF2, TERF2IP, TNKS, TNKS2 and TEP1). We did not observe (after correcting for multiple testing) statistically significant associations between SNPs and LTL, possibly suggesting a low genetic influence of the variability of these genes on LTL in the elderly. On the other hand, we found that the variability of genes encoding for TERF1 and TNKS2, not directly involved in LTL, but important for keeping the integrity of the structure, shows a significant association with longevity. This suggests that the maintenance of these chromosomal structures may be critically important for preventing, or delaying, senescence and aging. Such a correlation was not observed in a population from northern Italy that we used as an independent replication set. This discrepancy is in line with previous reports regarding both the population specificity of results on telomere biology and the differences of aging in northern and southern Italy.
白细胞端粒长度（LTL）已被观察到具有遗传性，并且与寿命相关。然而，不同人群关于LTL遗传力的值以及端粒生物学如何影响寿命的研究结果却相互矛盾。我们调查了与端粒维持相关的基因变异性是否与端粒长度相关，并影响意大利南部一个人群（年龄在20 - 106岁之间）的寿命。为此，我们分析了八个端粒酶相关基因中的31个多态性，其中12个位于编码核心酶（TERT和TERC）的基因中，其余的位于编码端粒酶复合体成分（TERF1、TERF2、TERF2IP、TNKS、TNKS2和TEP1）的基因中。在进行多重检验校正后，我们未观察到单核苷酸多态性（SNP）与LTL之间存在统计学上的显著关联，这可能表明这些基因的变异性对老年人LTL的遗传影响较低。另一方面，我们发现编码TERF1和TNKS2的基因变异性，虽然不直接参与LTL，但对维持结构完整性很重要，与寿命存在显著关联。这表明维持这些染色体结构对于预防或延缓衰老可能至关重要。在我们用作独立复制集的意大利北部人群中未观察到这种相关性。这种差异与先前关于端粒生物学结果的人群特异性以及意大利北部和南部衰老差异的报道一致。
